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Page 1
Impact of constitutional TET2 haploinsufficiency on molecular and clinical phenotype in humans.
Kaasinen E, Kuismin O, Rajamäki K, Ristolainen H, Aavikko M, Kondelin J, Saarinen S, Berta DG, Katainen R, Hirvonen EAM, Karhu A, Taira A, Tanskanen T, Alkodsi A, Taipale M, Morgunova E, Franssila K, Lehtonen R, Mäkinen M, Aittomäki K, Palotie A, Kurki MI, Pietiläinen O, Hilpert M, Saarentaus E, Niinimäki J, Junttila J, Kaikkonen K, Vahteristo P, Skoda RC, Seppänen MRJ, Eklund KK, Taipale J, Kilpivaara O, Aaltonen LA. Kaasinen E, et al. Among authors: aaltonen la. Nat Commun. 2019 Mar 19;10(1):1252. doi: 10.1038/s41467-019-09198-7. Nat Commun. 2019. PMID: 30890702 Free PMC article.
Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer.
Tomlinson IP, Alam NA, Rowan AJ, Barclay E, Jaeger EE, Kelsell D, Leigh I, Gorman P, Lamlum H, Rahman S, Roylance RR, Olpin S, Bevan S, Barker K, Hearle N, Houlston RS, Kiuru M, Lehtonen R, Karhu A, Vilkki S, Laiho P, Eklund C, Vierimaa O, Aittomäki K, Hietala M, Sistonen P, Paetau A, Salovaara R, Herva R, Launonen V, Aaltonen LA; Multiple Leiomyoma Consortium. Tomlinson IP, et al. Among authors: aaltonen la. Nat Genet. 2002 Apr;30(4):406-10. doi: 10.1038/ng849. Epub 2002 Feb 25. Nat Genet. 2002. PMID: 11865300
Little evidence for involvement of MLH3 in colorectal cancer predisposition.
Hienonen T, Laiho P, Salovaara R, Mecklin JP, Järvinen H, Sistonen P, Peltomäki P, Lehtonen R, Nupponen NN, Launonen V, Karhu A, Aaltonen LA. Hienonen T, et al. Among authors: aaltonen la. Int J Cancer. 2003 Aug 20;106(2):292-6. doi: 10.1002/ijc.11218. Int J Cancer. 2003. PMID: 12800209
Early-onset renal cell carcinoma as a novel extraparaganglial component of SDHB-associated heritable paraganglioma.
Vanharanta S, Buchta M, McWhinney SR, Virta SK, Peçzkowska M, Morrison CD, Lehtonen R, Januszewicz A, Järvinen H, Juhola M, Mecklin JP, Pukkala E, Herva R, Kiuru M, Nupponen NN, Aaltonen LA, Neumann HP, Eng C. Vanharanta S, et al. Among authors: aaltonen la. Am J Hum Genet. 2004 Jan;74(1):153-9. doi: 10.1086/381054. Epub 2003 Dec 18. Am J Hum Genet. 2004. PMID: 14685938 Free PMC article.
Biallelic inactivation of fumarate hydratase (FH) occurs in nonsyndromic uterine leiomyomas but is rare in other tumors.
Lehtonen R, Kiuru M, Vanharanta S, Sjöberg J, Aaltonen LM, Aittomäki K, Arola J, Butzow R, Eng C, Husgafvel-Pursiainen K, Isola J, Järvinen H, Koivisto P, Mecklin JP, Peltomäki P, Salovaara R, Wasenius VM, Karhu A, Launonen V, Nupponen NN, Aaltonen LA. Lehtonen R, et al. Among authors: aaltonen la, aaltonen lm. Am J Pathol. 2004 Jan;164(1):17-22. doi: 10.1016/S0002-9440(10)63091-X. Am J Pathol. 2004. PMID: 14695314 Free PMC article.
445 results